A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13700088



Internal ID21221921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132413492..132413602hg38UCSC Ensembl
chr5:131749184..131749294hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2811936
Supporting Variants
Samples
Known GenesC5orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13700088
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.046875


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